Gene Transfer Clinical Trial for Krabbe Disease (RESKUE)

This is an interventional treatment trial for Krabbe Disease focused on measuring Lysosomal Storage Disorder, Globoid Cell Leukodystrophy, Leukodystrophy, GALC Read More

Inclusion Criteria:

1. Diagnosis of infantile Krabbe disease, characterized by the following criteria outlined below:

   • Galactocerebrosidase (GALC) activity levels in leukocytes compatible with the diagnosis of Krabbe disease according to the lab releasing the results; AND AT LEAST ONE OF THE FOLLOWING:
   • Elevated psychosine predictive of infantile disease ≥ 9.0 nmol/L; OR
   • Imaging or neurophysiological findings consistent with Krabbe disease (CSF, MRI, NCV, ABR); OR
   • Two predicted pathogenic GALC mutations.
2. Age at the time of screening: 1 day to 12 months
3. Participant has been deemed eligible for treatment with HSCT (standard of care) or is within two weeks of HSC infusion
4. Participant's parents or legal guardian consents to participate in the study and provides informed consent according to IRB guidelines prior to any study procedures being performed
5. Parent(s) and/or legal guardian able to comply with the clinical protocol

6. Participant must have adequate organ function at time of screening as measured by:

   • Creatinine ≤ 1.5x upper limit of age appropriate normal and creatinine clearance ≥ 60 mL/min/1.73 m2
   • Hepatic transaminases (ALT/AST) ≤ 2x age related upper limit of normal
   • Ejection fraction of > 50% by echocardiogram or other appropriate study without evidence of pulmonary hypertension.
   • Pulmonary evaluation testing demonstrating resting pulse oximeter > 92% on room air
   • Coagulation tests within 110% of normal ranges for age. (PT/INR and PTT)

Exclusion Criteria:

1. History of prior treatment with a gene therapy product
2. Presence of major congenital anomaly affecting the neurological system
3. Presence of any neurocognitive deficit or brain damage not attributable to Krabbe disease
4. Active aspiration
5. Signs of active infection or disease from cytomegalovirus, adenovirus or other viruses
6. HIV positive
7. Uncontrolled and progressive bacterial or fungal infection.
8. Presence of any contraindication for MRI
9. Use of any investigational product prior to study enrollment or current enrollment in another study that involves clinical interventions
10. Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the PI, would preclude participation in the study
11. Ongoing veno-occlusive disease (VOD) as determined by liver ultrasound (moderate ascites and static or retrograde portal vein flow) the day before FBX-101 infusion.